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T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.
Stepensky P, Keller B, Shamriz O, von Spee-Mayer C, Friedmann D, Shadur B, Unger S, Fuchs S, NaserEddin A, Rumman N, Amro S, Molho Pessach V, Abuzaitoun O, Somech R, Elpeleg O, Ehl S, Warnatz K. Stepensky P, et al. Among authors: rumman n. J Clin Immunol. 2018 May;38(4):527-536. doi: 10.1007/s10875-018-0514-y. Epub 2018 Jun 9. J Clin Immunol. 2018. PMID: 29948574
Primary ciliary dyskinesia: mechanisms and management.
Damseh N, Quercia N, Rumman N, Dell SD, Kim RH. Damseh N, et al. Among authors: rumman n. Appl Clin Genet. 2017 Sep 19;10:67-74. doi: 10.2147/TACG.S127129. eCollection 2017. Appl Clin Genet. 2017. PMID: 29033599 Free PMC article. Review.
Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD.
Goutaki M, Papon JF, Boon M, Casaulta C, Eber E, Escudier E, Halbeisen FS, Harris A, Hogg C, Honore I, Jung A, Karadag B, Koerner-Rettberg C, Legendre M, Maitre B, Nielsen KG, Rubbo B, Rumman N, Schofield L, Shoemark A, Thouvenin G, Willkins H, Lucas JS, Kuehni CE. Goutaki M, et al. Among authors: rumman n. ERJ Open Res. 2020 Feb 10;6(1):00237-2019. doi: 10.1183/23120541.00237-2019. eCollection 2020 Jan. ERJ Open Res. 2020. PMID: 32055632 Free PMC article.
An international survey on nasal nitric oxide measurement practices for the diagnosis of primary ciliary dyskinesia.
Beydon N, Ferkol T, Harris AL, Colas M, Davis SD, Haarman E, Hogg C, Kilbride E, Kouis P, Kuehni CE, Latzin P, Marangu D, Marthin J, Nielsen KG, Robinson P, Rumman N, Rutter M, Walker W, Lucas JS. Beydon N, et al. Among authors: rumman n. ERJ Open Res. 2022 Apr 4;8(2):00708-2021. doi: 10.1183/23120541.00708-2021. eCollection 2022 Apr. ERJ Open Res. 2022. PMID: 35386825 Free PMC article.
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR, Patel MP, Shoemark A, Cullup T, Hayward J, Dixon M, Rogers AV, Ollosson S, Jackson C, Goggin P, Hirst RA, Rutman A, Thompson J, Jenkins L, Aurora P, Moya E, Chetcuti P, O'Callaghan C, Morris-Rosendahl DJ, Watson CM, Wilson R, Carr S, Walker W, Pitno A, Lopes S, Morsy H, Shoman W, Pereira L, Constant C, Loebinger MR, Chung EMK, Kenia P, Rumman N, Fasseeh N, Lucas JS, Hogg C, Mitchison HM. Fassad MR, et al. Among authors: rumman n. J Med Genet. 2020 May;57(5):322-330. doi: 10.1136/jmedgenet-2019-106501. Epub 2019 Dec 25. J Med Genet. 2020. PMID: 31879361
Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1.
Halbeisen F, Hogg C, Alanin MC, Bukowy-Bieryllo Z, Dasi F, Duncan J, Friend A, Goutaki M, Jackson C, Keenan V, Harris A, Hirst RA, Latzin P, Marsh G, Nielsen K, Norris D, Pellicer D, Reula A, Rubbo B, Rumman N, Shoemark A, Walker WT, Kuehni CE, Lucas JS. Halbeisen F, et al. Among authors: rumman n. BMC Proc. 2018 Mar 5;12(Suppl 2):1. doi: 10.1186/s12919-018-0098-9. eCollection 2018. BMC Proc. 2018. PMID: 29630684 Free PMC article.
Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.
Farley H, Rubbo B, Bukowy-Bieryllo Z, Fassad M, Goutaki M, Harman K, Hogg C, Kuehni CE, Lopes S, Nielsen KG, Norris DP, Reula A, Rumman N, Shoemark A, Wilkins H, Wisse A, Lucas JS, Marthin JK. Farley H, et al. Among authors: rumman n. BMC Proc. 2018 Dec 18;12(Suppl 16):64. doi: 10.1186/s12919-018-0161-6. eCollection 2018. BMC Proc. 2018. PMID: 30807620 Free PMC article.
29 results